NI parents' fight for child with gene that makes him 'one of 50 in the world'

The parents of a four-year-old boy with cystic fibrosis whose rare gene makes him "one of 50 known cases in the world" have raised more than £30,000 to help fight the currently incurable condition.

Duane and Deborah McCreadie’s son Xander was officially diagnosed with cystic fibrosis (CF) – a condition which causes sticky mucus to build up in the lungs and digestive system – at six months old in 2021. Duane, 42, a construction director, and Deborah, 40, a psychologist, who live in Donaghadee, said they Googled the condition, which was "horrific", and read that the average life expectancy at the time was around 30 years old.

Moreover, in Xander’s case, the couple said they were told by doctors that "they’ve only found 50 cases of this gene across the whole world", meaning he is among the 10% of patients who cannot benefit from drugs such as Kaftrio, which significantly improves lung function.

READ MORE: NI personal trainer with genetic illness helping others smash through barriers

READ MORE: NI mum's joy as NHS deal means infant daughter will enjoy 'longer, better life'

Although Duane said CF feels like a "grey cloud" hanging over them and Xander is susceptible to other illnesses, particularly during the winter months, he is currently "strong" and enjoys being outdoors, and the family is looking forward to Christmas this year.

With the "unknown" that comes with CF, Duane said the family have just been "living (their) life and adjusting to the changing landscape", and they have found comfort and a sense of "purpose" in fundraising for charity to help find a cure.

"There’s an anxiety that sets in around September, October – the cold weather, flu season, cough season – because you just don’t know what’s going to happen with Xander in the winter," Duane told PA Real Life.

"But you always have to be positive and be that leader to find a solution, so my solution to this problem is trying to raise as much money as possible to help find a cure or help develop (more treatments). I’m not ashamed or shy at all about talking about the condition, it doesn’t label him, it’s just another thing we have to navigate through life.

"It’s not a life sentence. There is a grey cloud there, but there are ways of managing that grey cloud, there are ways to plan for it and there are ways to not let it become who you are."

Before Xander was diagnosed, Duane said he and his wife Deborah "didn’t have any knowledge" of CF.

On September 20 2020, around two weeks after Xander was born, Duane said he received a call from Deborah, who was "in tears", saying a doctor is coming to the house as they suspected Xander may have CF.

It was discovered there was "something untoward" in Xander’s heel prick test after birth – which checks if babies have any of nine rare but serious conditions – and he needed to have another one. He underwent several sweat tests, which are used to help make or rule out a diagnosis of CF, and this led to his official diagnosis when he was six months old.

"It wasn’t until the February or March in 2021 that we had a proper diagnosis, which was an incredibly stressful time because, in the modern world of Google, if you Google cystic fibrosis, it’s not pleasant reading," Duane said.

"You read about average life expectancy from the condition and I think that was probably the biggest struggle with cystic fibrosis, that unknown."

According to the charity Cystic Fibrosis Trust, in 2022, the 64 people with CF who died had a median age of 33 and there is currently no cure for the condition. Duane explained that he was diagnosed with cancer when he was 18 and he had a clear “plan of action” in terms of treatment, which made it feel "more simple to deal with".

However, with CF, he said "no two cases are the same" and he started questioning what would happen next for Xander.

"You start thinking, what is the impact? What is it going to affect? Is he going to get sick? All these things are very much outside of your control, which is very hard," Duane said.

At the time of his diagnosis, Duane and Deborah, who have a six-year-old daughter called Willow, learned from doctors that Xander has an extremely rare gene.

He said: “(Doctors) said they’ve only found 50 cases of this gene across the whole world – and that’s maybe why there’s been no history in our family. It straightaway meant that Deborah was on Google and she was reading about modulator drugs like Kaftrio.

"It was amazing, all these people were benefiting from it, but very quickly Deborah realised that Xander’s gene pairing was in the 10% club – the 10% that didn’t benefit from Kaftrio."

This inspired the couple to start raising money to support charities, like Cystic Fibrosis Trust, to help find a cure and fund medical research into treatments, such as genetic therapies – and so far, Duane said they have raised around £35,000.

Genetic therapies offer the potential to treat everyone with CF, including those who are not able to take CFTR modulators like Kaftrio, but it is not currently known when they might become available as standard treatments for CF, Cystic Fibrosis Trust says.

"He doesn’t benefit from these drugs that are currently there, which inspired us then to try and raise more money," he explained.

Duane described Xander as "a unit" – he said he is strong and "a proper lad" and, looking at him, you "would not know he’s sick".

He takes the medication Creon with every meal, which aids digestion, and uses nebulisers – machines which allow people to breathe in medicine.

People with CF are vulnerable to different bacteria or "bugs" that grow in their lungs, which are usually harmless to people who do not have the condition – but this means that Xander usually picks up illnesses over the winter months.

Although Xander is more susceptible to falling ill, Duane said he loves going outdoors with his children and encourages them both to be active.

"I want them outdoors, I want them outside, so we spend lots of time in the garden or in the mountains or in the sea, and I try and get them outside as much as possible to keep them healthy and keep his lungs clear," he said.

Duane explained that CF can feel like "a grey cloud" hanging over them and they "never have a day off", but he wants Xander to live a long life, full of opportunity and adventure.

He hopes that by sharing Xander’s story he can raise more awareness of the condition and hopefully more treatments become available in future.

To find out more about Cystic Fibrosis Trust, which funds vital research, visit: cysticfibrosis.org.uk.

For all the latest news, visit the Belfast Live homepage here and sign up to our daily newsletter here.